Varaico: Literature-Extracted Genetic Variants

EP300

2,148 papers

RefSeq Summary

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and ...

Pfam Domains

zf-TAZaa 338–414UCSCTAZ zinc finger

KIXaa 566–646UCSCKIX domain

Bromodomainaa 1032–1118UCSCBromodomain

RING_CBP-p300aa 1130–1169UCSCCREB-binding protein/p300, atypical RING domain

PHD_P300aa 1214–1252UCSCHistone acetyltransferase p300-like, PHD domain

HAT_KAT11aa 1280–1587UCSCHistone acetylation protein

Gene Aliases

HGNC Name

EP300 lysine acetyltransferase

HGNC Alias Symbols

p300; KAT3B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001429.4

p.G2394R

c.7180G>C

Surrounding Variants

1 paper

NM_001429.4

p.G2394R

c.7180G>A

2 papers

NM_001429.4

p.L2393V

c.7177C>G

1 paper

NM_001429.4

p.L2395P

c.7184T>C

1 paper

NM_001429.4

p.D2392N

c.7174G>A

3 papers

NM_001429.4

p.T2391M

c.7172C>T

1 paper

NM_001429.4

p.T2391fs

c.7171_7172fs

5 papers

NM_001429.4

p.A2390T

c.7168G>A

3 papers

NM_001429.4

p.D2398N

c.7192G>A

2 papers

NM_001429.4

p.S2389S

c.7167C>T

1 paper

NM_001429.4

p.G2387D

c.7160G>A

1 paper

NM_001429.4

p.G2387_A2388delFs

c.7160_7164del5

2 papers

NM_001429.4

p.L2402F

c.7206G>C